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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-046358
UUCD1 version UUC-HoS-00072
Ensembl Protein ID ENSP00000380378.4
UniProt Accession P43034; B2R7Q7; Q8WZ88; Q8WZ89; LIS1_HUMAN
Genbank Protein ID AAA02880.1; AAA02881.1; AAA02882.1; AAC51111.1; AAC51111.1; AAC51111.1; AAC51111.1; AAC51111.1; AAC51111.1; AAC51111.1; AAC51111.1; AAC51111.1; AAL34972.1; AAL34973.1; AAK92483.1; BAG35904.1; CAD98141.1; EAW90536.1; AAH64638.1
Protein Name Platelet-activating factor acetylhydrolase IB subunit alpha; Lissencephaly-1 protein; PAF acetylhydrolase 45 kDa subunit; PAF-AH alpha
Genbank Nucleotide ID L13385; L13386; L13387; U72342; U72334; U72335; U72336; U72337; U72338; U72339; U72340; U72341; AF208837; AF208838; AF400434; AK313078; BX538346; CH471108; BC064638
Gene Name PAFAH1B1; LIS1; MDCR; MDS; PAFAHA
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000007168.12 ENST00000397195.9 ENSP00000380378.4
ENSG00000007168.12 ENST00000570400.1 ENSP00000460258.1
ENSG00000007168.12 ENST00000574468.1 ENSP00000460591.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
miRWalkTargetScanRepTarSomamiR
miRcodeRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Disease-associated Information
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDUniProtPHOSIDABioGRID
mUbiSiDa
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
E3 adaptor/Cullin RING/DCX/DWD WD_repeat 17588513
UBD/Beta-Prp Beta-Prp 21070969
Classification
Family E-value Score Start End
E3 adaptor/Cullin RING/DCX/DWD 1.40e-59 196.9 190 229
UBD/Beta-Prp 2.30e-94 317.6 107 410
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 adaptor/Cullin RING/DCX/DWD
   S: 1    gHtdsvtclaf.sd.tllvsGsdDgtikvWDlrtgvllks 38
           gH   v+++a  ++ +++vs+s+D+tik+W++ tg ++k+
   Q: 190  GHDHNVSSVAImPNgDHIVSASRDKTIKMWEVQTGYCVKT 229
           899*******99777********************99875 PP
   

   UBD/Beta-Prp
   S: 9    hksvitcvkfspdksllatgsrdgtikvwdvttgkllrslsgheaevtavkfspdgkilvtgseDrtikvwdlstgkcvhtlkghedsvlsl 100
           h s++t v f+p  s+++++s+d+tikvwd++tg++ r+l+gh++ v++++f+++gk+l+++s D+tik+wd++ ++c++t++gh+++v s+
   Q: 107  HRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDHSGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSV 198
           5668888************************************************************************************* PP
   S: 101  sfspsgdklvsGshdrtirvwdletgqcleetlsghdgvvncvvvhpdgnllvsGslDrtvrlWdlktgkllrtltgghtdsvyslsfdsng 192
           +++p+gd++vs+s+d+ti++w+++tg+c++ t++gh+++v++v+ ++dg l++s+s+D+tvr+W ++t+++  +l++ h++ v+++s+ +++
   Q: 199  AIMPNGDHIVSASRDKTIKMWEVQTGYCVK-TFTGHREWVRMVRPNQDGTLIASCSNDQTVRVWVVATKECKAELRE-HEHVVECISWAPES 288
           ******************************.*********************************************9.************** PP
   S: 193  ....................kelvsgsldgtvklwdlqtgecvrtlnghtdnvksvrfspnderlvsgssDgsiriWdlrsgdllktlqlhn 264
                               ++l+sgs+d+t+k+wd++tg c++tl gh+++v+ v f++ +++++s+++D+++r+Wd++++ ++ktl+ h+
   Q: 289  syssiseatgsetkksgkpgPFLLSGSRDKTIKMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHE 380
           ******************************************************************************************** PP
   S: 265  ssvisvavlsfgdnvlvlgsedskvniwklk 295
           + v+s ++ + + +++v+gs d++v++w+++
   Q: 381  HFVTSLDF-HKTAPYVVTGSVDQTVKVWECR 410
           ********.99*****************985 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing. Required for dynein recruitment to microtubule plus ends and BICD2-bound cargos (PubMed:22956769).
 Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing. Required for dynein recruitment to microtubule plus ends and BICD2-bound cargos (PubMed:22956769).
Protein Sequence
(Fasta)
MVLSQRQRDE LNRAIADYLR SNGYEEAYSV FKKEAELDVN EELDKKYAGL LEKKWTSVIR 60
LQKKVMELES KLNEAKEEFT SGGPLGQKRD PKEWIPRPPE KYALSGHRSP VTRVIFHPVF 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046358|E3,WD_repeat;UBD,Beta-Prp|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
AGGCAGAAAG GGGCGGTAGG TGGCCGGGCC CCGCTGCCTC TCGCGCCTCC CGGGGCCCGC 60
CACACACGGT GCCAACGGGA CGCCGCGGTC GGCCGCATGA GCGCAAAAGC AGGGCAGCGA 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046358|E3,WD_repeat;UBD,Beta-Prp|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0007--Acetylation
KW-0025--Alternative splicing
KW-0131--Cell cycle
KW-0132--Cell division
KW-0175--Coiled coil
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0206--Cytoskeleton
KW-0217--Developmental protein
KW-0221--Differentiation
KW-0225--Disease mutation
KW-0442--Lipid degradation
KW-0443--Lipid metabolism
KW-0451--Lissencephaly
KW-0472--Membrane
KW-0493--Microtubule
KW-0498--Mitosis
KW-0524--Neurogenesis
KW-0539--Nucleus
KW-0597--Phosphoprotein
KW-1185--Reference proteome
KW-0677--Repeat
KW-0813--Transport
KW-0853--WD repeat
Interpro

IPR017252--Dynein_regulator_LIS1
IPR020472--G-protein_beta_WD-40_rep
IPR006594--LisH
IPR001680--WD40_repeat
IPR019775--WD40_repeat_CS
IPR017986--WD40_repeat_dom
PROSITE

PS50896--LISH
PS00678--WD_REPEATS_1
PS50082--WD_REPEATS_2
PS50294--WD_REPEATS_REGION
Pfam

PF08513--LisH
PF00400--WD40
PRINTS

PR00320--GPROTEINBRPT
SMART

SM00667--LisH
SM00320--WD40
Gene Ontology

GO:0000235--C:astral microtubule
GO:1904115--C:axon cytoplasm
GO:0005938--C:cell cortex
GO:0031252--C:cell leading edge
GO:0090724--C:central region of growth cone
GO:0005813--C:centrosome
GO:0005829--C:cytosol
GO:0070062--C:extracellular exosome
GO:0005871--C:kinesin complex
GO:0000776--C:kinetochore
GO:0005875--C:microtubule associated complex
GO:0031514--C:motile cilium
GO:0043025--C:neuronal cell body
GO:0005635--C:nuclear envelope
GO:0031965--C:nuclear membrane
GO:0048471--C:perinuclear region of cytoplasm
GO:0032420--C:stereocilium
GO:0034452--F:dynactin binding
GO:0070840--F:dynein complex binding
GO:0008201--F:heparin binding
GO:0008017--F:microtubule binding
GO:0004623--F:phospholipase A2 activity
GO:0043274--F:phospholipase binding
GO:0051219--F:phosphoprotein binding
GO:0042803--F:protein homodimerization activity
GO:0001675--P:acrosome assembly
GO:0030036--P:actin cytoskeleton organization
GO:0008344--P:adult locomotory behavior
GO:0001667--P:ameboidal-type cell migration
GO:0060117--P:auditory receptor cell development
GO:0048854--P:brain morphogenesis
GO:0021987--P:cerebral cortex development
GO:0021895--P:cerebral cortex neuron differentiation
GO:0007268--P:chemical synaptic transmission
GO:0097711--P:ciliary basal body docking
GO:0090102--P:cochlea development
GO:0021540--P:corpus callosum morphogenesis
GO:0043622--P:cortical microtubule organization
GO:0051660--P:establishment of centrosome localization
GO:0000132--P:establishment of mitotic spindle orientation
GO:0042249--P:establishment of planar polarity of embryonic epithelium
GO:0000086--P:G2/M transition of mitotic cell cycle
GO:0007281--P:germ cell development
GO:0021766--P:hippocampus development
GO:0021819--P:layer formation in cerebral cortex
GO:0007611--P:learning or memory
GO:0016042--P:lipid catabolic process
GO:0051661--P:maintenance of centrosome location
GO:0000226--P:microtubule cytoskeleton organization
GO:0090176--P:microtubule cytoskeleton organization involved in establishment of planar polarity
GO:0031023--P:microtubule organizing center organization
GO:0007017--P:microtubule-based process
GO:0007067--P:mitotic nuclear division
GO:0046329--P:negative regulation of JNK cascade
GO:0010977--P:negative regulation of neuron projection development
GO:0007405--P:neuroblast proliferation
GO:0050885--P:neuromuscular process controlling balance
GO:0001764--P:neuron migration
GO:0051081--P:nuclear envelope disassembly
GO:0007097--P:nuclear migration
GO:0036035--P:osteoclast development
GO:0046469--P:platelet activating factor metabolic process
GO:0045773--P:positive regulation of axon extension
GO:0001961--P:positive regulation of cytokine-mediated signaling pathway
GO:0061003--P:positive regulation of dendritic spine morphogenesis
GO:0040019--P:positive regulation of embryonic development
GO:0045931--P:positive regulation of mitotic cell cycle
GO:0009306--P:protein secretion
GO:0043087--P:regulation of GTPase activity
GO:0070507--P:regulation of microtubule cytoskeleton organization
GO:2000574--P:regulation of microtubule motor activity
GO:0008090--P:retrograde axonal transport
GO:0007062--P:sister chromatid cohesion
GO:0017145--P:stem cell division
GO:0019226--P:transmission of nerve impulse
GO:0047496--P:vesicle transport along microtubule
KEGG hsa:5048
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001589 Ailuropoda melanoleuca 99.75 0.00e+00 832.00
IUUC-Apl-004024 Anas platyrhynchos 99.02 0.00e+00 852.00
IUUC-Aca-004564 Anolis carolinensis 98.78 0.00e+00 846.00
IUUC-Ago-007862 Ashbya gossypii 27.23 1.00e-38 154.00
IUUC-Acl-008360 Aspergillus clavatus 46.53 8.00e-105 374.00
IUUC-Afl-008502 Aspergillus flavus 46.21 2.00e-94 339.00
IUUC-Afu-008848 Aspergillus fumigatus 47.19 1.00e-106 380.00
IUUC-Ani-009173 Aspergillus nidulans 42.54 2.00e-90 326.00
IUUC-Ang-009873 Aspergillus niger 44.56 2.00e-94 339.00
IUUC-Aor-009973 Aspergillus oryzae 43.94 4.00e-92 332.00
IUUC-Ate-010523 Aspergillus terreus 41.81 2.00e-90 325.00
IUUC-Ame-010969 Astyanax mexicanus 94.63 0.00e+00 820.00
IUUC-Bgr-011972 Blumeria graminis 47.73 2.00e-105 375.00
IUUC-Bta-013106 Bos taurus 99.76 0.00e+00 855.00
IUUC-Bci-013615 Botrytis cinerea 44.58 7.00e-99 354.00
IUUC-Cel-018459 Caenorhabditis elegans 57.42 1.00e-148 519.00
IUUC-Cja-018755 Callithrix jacchus 97.32 0.00e+00 835.00
IUUC-Cfa-020749 Canis familiaris 99.76 0.00e+00 855.00
IUUC-Cpo-022371 Cavia porcellus 99.76 0.00e+00 855.00
IUUC-Csa-023524 Chlorocebus sabaeus 99.42 0.00e+00 721.00
IUUC-Cho-024764 Choloepus hoffmanni 89.22 0.00e+00 679.00
IUUC-Cin-025753 Ciona intestinalis 71.05 2.00e-180 624.00
IUUC-Csv-025817 Ciona savignyi 69.51 0.00e+00 634.00
IUUC-Cgl-026529 Colletotrichum gloeosporioides 46.81 7.00e-98 350.00
IUUC-Cne-027087 Cryptococcus neoformans 50.39 3.00e-110 392.00
IUUC-Dre-028314 Danio rerio 93.66 0.00e+00 816.00
IUUC-Dno-029050 Dasypus novemcinctus 99.51 0.00e+00 854.00
IUUC-Dor-030222 Dipodomys ordii 91.46 0.00e+00 771.00
IUUC-Dse-031164 Dothistroma septosporum 43.58 8.00e-102 363.00
IUUC-Dme-031745 Drosophila melanogaster 70.07 7.00e-172 596.00
IUUC-Ete-032508 Echinops telfairi 82.93 0.00e+00 687.00
IUUC-Eca-034288 Equus caballus 99.25 0.00e+00 828.00
IUUC-Eeu-034984 Erinaceus europaeus 91.22 0.00e+00 768.00
IUUC-Fca-036498 Felis catus 99.76 0.00e+00 855.00
IUUC-Fal-036920 Ficedula albicollis 99.02 0.00e+00 852.00
IUUC-Fox-037996 Fusarium oxysporum 46.41 2.00e-104 373.00
IUUC-Fso-038160 Fusarium solani 44.10 3.00e-99 355.00
IUUC-Gmo-038983 Gadus morhua 93.66 0.00e+00 809.00
IUUC-Ggr-040051 Gaeumannomyces graminis 45.11 4.00e-98 352.00
IUUC-Gga-040623 Gallus gallus 99.02 0.00e+00 852.00
IUUC-Gac-041613 Gasterosteus aculeatus 92.93 0.00e+00 807.00
IUUC-Ggo-045410 Gorilla gorilla 88.97 0.00e+00 724.00
IUUC-Itr-047890 Ictidomys tridecemlineatus 99.76 0.00e+00 855.00
IUUC-Kpa-049351 Komagataella pastoris 29.60 2.00e-43 170.00
IUUC-Lch-049936 Latimeria chalumnae 96.59 0.00e+00 830.00
IUUC-Loc-052476 Lepisosteus oculatus 95.74 0.00e+00 802.00
IUUC-Lma-053170 Leptosphaeria maculans 46.67 4.00e-101 361.00
IUUC-Laf-053713 Loxodonta africana 97.80 0.00e+00 835.00
IUUC-Mcc-054628 Macaca mulatta 99.27 0.00e+00 852.00
IUUC-Meu-055927 Macropus eugenii 86.28 4.00e-140 490.00
IUUC-Mor-056962 Magnaporthe oryzae 45.08 2.00e-98 352.00
IUUC-Mpo-057583 Magnaporthe poae 45.05 3.00e-94 338.00
IUUC-Mla-058819 Melampsora laricipopulina 48.31 8.00e-119 420.00
IUUC-Mga-059945 Meleagris gallopavo 98.78 0.00e+00 850.00
IUUC-Mvi-060403 Microbotryum violaceum 50.11 5.00e-129 454.00
IUUC-Mmr-061289 Microcebus murinus 99.75 0.00e+00 832.00
IUUC-Mdo-061912 Monodelphis domestica 99.02 0.00e+00 848.00
IUUC-Mmu-063253 Mus musculus 99.76 0.00e+00 855.00
IUUC-Mpu-066638 Mustela putorius furo 99.76 0.00e+00 855.00
IUUC-Mlu-067267 Myotis lucifugus 98.04 0.00e+00 836.00
IUUC-Nfi-068571 Neosartorya fischeri 45.57 6.00e-99 354.00
IUUC-Ncr-068895 Neurospora crassa 48.41 1.00e-105 376.00
IUUC-Nle-069087 Nomascus leucogenys 99.40 0.00e+00 696.00
IUUC-Opr-070579 Ochotona princeps 99.51 0.00e+00 854.00
IUUC-Ont-072432 Oreochromis niloticus 94.63 0.00e+00 821.00
IUUC-Oan-073072 Ornithorhynchus anatinus 99.76 0.00e+00 855.00
IUUC-Ocu-074180 Oryctolagus cuniculus 99.51 0.00e+00 854.00
IUUC-Ola-086772 Oryzias latipes 94.15 0.00e+00 812.00
IUUC-Oga-088219 Otolemur garnettii 97.56 0.00e+00 834.00
IUUC-Oar-090394 Ovis aries 99.76 0.00e+00 855.00
IUUC-Ptr-091517 Pan troglodytes 99.76 0.00e+00 855.00
IUUC-Pan-092421 Papio anubis 99.27 0.00e+00 852.00
IUUC-Psi-093370 Pelodiscus sinensis 99.27 0.00e+00 852.00
IUUC-Pma-094319 Petromyzon marinus 88.83 0.00e+00 642.00
IUUC-Pno-094815 Phaeosphaeria nodorum 47.26 1.00e-104 373.00
IUUC-Pfo-097089 Poecilia formosa 93.66 0.00e+00 813.00
IUUC-Pab-098421 Pongo abelii 99.76 0.00e+00 855.00
IUUC-Pca-100120 Procavia capensis 72.77 1.00e-163 568.00
IUUC-Pva-102960 Pteropus vampyrus 99.51 0.00e+00 850.00
IUUC-Pgr-103538 Puccinia graminis 47.87 2.00e-118 419.00
IUUC-Ptt-103990 Puccinia triticina 42.46 1.00e-44 174.00
IUUC-Pte-104261 Pyrenophora teres 47.49 7.00e-105 374.00
IUUC-Pyt-104780 Pyrenophora triticirepentis 47.73 4.00e-105 375.00
IUUC-Rno-105123 Rattus norvegicus 99.76 0.00e+00 855.00
IUUC-Sce-106208 Saccharomyces cerevisiae 27.29 4.00e-36 145.00
IUUC-Sha-107010 Sarcophilus harrisii 98.78 0.00e+00 847.00
IUUC-Sja-107899 Schizosaccharomyces japonicus 32.34 2.00e-64 239.00
IUUC-Ssl-108571 Sclerotinia sclerotiorum 44.71 2.00e-99 355.00
IUUC-Sar-113309 Sorex araneus 99.00 0.00e+00 823.00
IUUC-Sre-115003 Sporisorium reilianum 50.00 2.00e-125 442.00
IUUC-Ssc-116148 Sus scrofa 99.76 0.00e+00 855.00
IUUC-Tgu-117299 Taeniopygia guttata 98.78 0.00e+00 848.00
IUUC-Tru-117721 Takifugu rubripes 93.17 0.00e+00 805.00
IUUC-Tsy-119493 Tarsius syrichta 98.29 0.00e+00 838.00
IUUC-Tni-120355 Tetraodon nigroviridis 93.17 0.00e+00 781.00
IUUC-Tre-121977 Trichoderma reesei 43.64 5.00e-101 361.00
IUUC-Tvi-122661 Trichoderma virens 43.84 7.00e-100 357.00
IUUC-Tme-127031 Tuber melanosporum 49.38 8.00e-104 370.00
IUUC-Tbe-127492 Tupaia belangeri 83.08 2.00e-115 409.00
IUUC-Ttr-128929 Tursiops truncatus 99.51 0.00e+00 852.00
IUUC-Uma-129347 Ustilago maydis 47.72 4.00e-122 431.00
IUUC-Vda-129837 Verticillium dahliae 45.69 1.00e-99 356.00
IUUC-Vpa-130532 Vicugna pacos 85.23 0.00e+00 663.00
IUUC-Xtr-131985 Xenopus tropicalis 97.32 0.00e+00 840.00
IUUC-Xma-133314 Xiphophorus maculatus 94.15 0.00e+00 816.00
IUUC-Yli-134403 Yarrowia lipolytica 38.34 6.00e-74 271.00
Created Date 25-Jun-2017

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